Recombinant Human Centrosomal protein of 120 kDa (CEP120), Truncated

Uniprot Id

Q8N960

Target Species

Human

Target Name

CEP120

Target Full Name

Centrosomal protein of 120 kDa

Target Function

Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner.

Target Involvement

Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13); Joubert syndrome 31 (JBTS31)

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Target Protein Families

CEP120 family

Target Synonyms

CCDC100; CE120_HUMAN; Centrosomal protein of 120 kDa; Cep120; Coiled-coil domain-containing protein 100

Target Background

This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants.